Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome

Preferred Label : Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome;

Symbol : PAPPAS;

CISMeF acronym : PAPPAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amelia, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the T-box-4 gene (TBX4, 601719.0010);

Prefixed ID : #601360;

Details

Origin ID

601360;

UMLS CUI

C1832432;

Automatic exact mappings (from CISMeF team)
- PAPPA Gene [NCIt concept]
- PAPPA wt Allele [NCIt concept]
- pregnancy-associated plasma protein-a [MeSH Descriptor]
Currated CISMeF NLP mapping
- Autosomal recessive amelia [ORDO Disease]
- Autosomal recessive amelia (disorder) [SNOMED CT concept]
- amelia, autosomal recessive [MeSH concept]
- amelia, autosomal recessive [MeSH Supplementary Concept]
Genes related to phenotype
- T-box transcription factor 4 [OMIM gene]
HPO term(s)
- Amelia [HPO term]
- Autosomal recessive inheritance [HPO term]
ORDO concept(s)
- Autosomal recessive amelia [ORDO Disease]
See also inter- (CISMeF)
- Pappalysin-1 [NCIt concept]
- Pregnancy-Associated Plasma Protein-A Measurement [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive amelia [ORDO Disease]
- Autosomal recessive amelia (disorder) [SNOMED CT concept]
- amelia, autosomal recessive [MeSH Supplementary Concept]
- amelia, autosomal recessive [MeSH concept]

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